Levkovych N. Analysis of polymorphic variants frequency of CYP2C9, CYP2C19, CYP2D6 and MDR1 genes in the Ukrainian population

The dissertation is devoted the study of the polymorphic variants C430T, A1075C, G681A, G1934A and C3435T frequency of CYP2C9, CYP2C19, CYP2D6 and MDR1 genes in the Ukrainian population and seek of genotypes associations with the risk of multifactor diseases. Provided data characterizing the genotypes frequency of the studied polymorphic variants of CYP2C9, CYP2C19, CYP2D6 and MDR1 genes in the Ukrainian population. It's proved the absence of significant differences in the distribution of received genotype frequency compared with other Europeans. It was proven an association of 1934AA genotype of CYP2D6 gene and increased risk of breast cancer (BC) in women. Shown to increase the risk by 7 times in the presence of a hereditary tainted BC woman. It was determined that the "wild type" (1934GG) genotype of CYP2D6 gene reduces the risk of breast cancer developing by 2 times. It was proven that the presence 3435TT genotype of MDR1 gene increases the risk of affective disorders in 2 times, and 3435C allele in homo- or heterozygous condition has a protective value. Also been shown that an important contribution to risk of developing of this disease are making the patients with the debut of of disease before 25 years of age. Keywords: gene polymorphism, multifactorial pathology.